Test Code 10005

Beckwith-Wiedemann Syndrome via the CDKN1C Gene

CDKN1C

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of Beckwith-Wiedemann syndrome
  • Individuals with normal methylation testing results at chromosome 11p15
  • Individuals without access to the specific CDKN1C variant information for a family member who has genetically-confirmed Beckwith-Wiedemann syndrome due to a CDKN1C variant
Method
NGS with CNV (PGselect Platform)
Specimen(s)

Blood, Buccal, Saliva, Tissue

Order Options

Test type
OTHER OPTIONS
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